A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome.
Since its original description (2), many new cases of Cohen syndrome have been reported, most of them showing a quite variable expressivity. Autosomal recessive inheritance is widely accepted (MIM : 216550) (11), however, multiple instances of sporadic cases are observed. From a literature review (52 cases), we could determinate, in order of frequency, the most important clinical traits of the Cohen syndrome. We report here a father and two sons with dysmorphic features resembling Cohen syndrome and transmitting by an autosomal dominant mode.
Mejía-Baltodano
G
G
División de Genética, Centro de Investigación Biomédica, Instituto Mexicano del Seguro Social. Guadalajara, Jalisco, México.
Bobadilla
L
L
Solís
A
A
Mendoza
R
R
Díaz-Gallardo
M Y
MY
Barros-Núñez
P
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D005074:Evoked Potentials, Visual / Q000502:physiology; D005124:Eye Abnormalities / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008800:Mexico; D009123:Muscle Hypotonia / Q000235:genetics*